Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1282322803
rs1282322803
KLHL3
2 0.925 0.120 5 137625803 missense variant T/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs137853095
rs137853095
COA3 ; WNK4
4 0.851 0.160 17 42796244 missense variant C/T snv 1.5E-04 2.4E-04 0.010 1.000 1 2013 2013
dbSNP: rs36002646
rs36002646
KLHL3
2 0.925 0.120 5 137637295 splice region variant C/T snv 0.010 1.000 1 2018 2018